Somatic Disease/Germline Comparator Provider Packet

Somatic Disease/Germline Comparator Gene List

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In total, CNV, LOH, Tumor mutational burden (TMB) and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

This test also reports tumor mutational burden (TMB). The TMB value serves as a biomarker in consideration of the potential applicability of therapies targeting immune checkpoint inhibition. TMB values of greater than or equal to 10 are described as TMB high, values less than or equal to 5 are described as TMB low, and values between those ranges are defined as TMB intermediate. Tumors with a high TMB can generate neoantigens, representing abnormal proteins, that can trigger an immune response.  For this reason, TMB-high tumors may be more likely to respond to immunotherapy. TMB is used to inform the cancer patient population who would be more likely to benefit from immune checkpoint inhibitors.

In the setting of high-TMB (defined in this context as 10 mutations/Mb) the FDA has approved pembrolizumab for adult and pediatric patients with advanced-stage solid tumors following disease progression on standard-of-care therapy who lack an alternative treatment option.  Dozens of other immunotherapies have been approved in various cancer contexts. Ability to report TMB may be tumor specimen dependent. Please contact the laboratory for further information.

Somatic Disease/Germline Comparator Provider Packet

Somatic Disease/Germline Comparator Gene List

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In total, CNV, LOH, Tumor mutational burden (TMB) and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

This test also reports tumor mutational burden (TMB). The TMB value serves as a biomarker in consideration of the potential applicability of therapies targeting immune checkpoint inhibition. TMB values of greater than or equal to 10 are described as TMB high, values less than or equal to 5 are described as TMB low, and values between those ranges are defined as TMB intermediate. Tumors with a high TMB can generate neoantigens, representing abnormal proteins, that can trigger an immune response.  For this reason, TMB-high tumors may be more likely to respond to immunotherapy. TMB is used to inform the cancer patient population who would be more likely to benefit from immune checkpoint inhibitors.

In the setting of high-TMB (defined in this context as 10 mutations/Mb) the FDA has approved pembrolizumab for adult and pediatric patients with advanced-stage solid tumors following disease progression on standard-of-care therapy who lack an alternative treatment option.  Dozens of other immunotherapies have been approved in various cancer contexts. Ability to report TMB may be tumor specimen dependent. Please contact the laboratory for further information.

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In total, CNV, LOH, Tumor mutational burden (TMB) and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

This test also reports tumor mutational burden (TMB). The TMB value serves as a biomarker in consideration of the potential applicability of therapies targeting immune checkpoint inhibition. TMB values of greater than or equal to 10 are described as TMB high, values less than or equal to 5 are described as TMB low, and values between those ranges are defined as TMB intermediate. Tumors with a high TMB can generate neoantigens, representing abnormal proteins, that can trigger an immune response.  For this reason, TMB-high tumors may be more likely to respond to immunotherapy. TMB is used to inform the cancer patient population who would be more likely to benefit from immune checkpoint inhibitors.

In the setting of high-TMB (defined in this context as 10 mutations/Mb) the FDA has approved pembrolizumab for adult and pediatric patients with advanced-stage solid tumors following disease progression on standard-of-care therapy who lack an alternative treatment option.  Dozens of other immunotherapies have been approved in various cancer contexts. Ability to report TMB may be tumor specimen dependent. Please contact the laboratory for further information.

Somatic Disease/Germline Comparator Provider Packet

Somatic Disease/Germline Comparator Gene List

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In total, CNV, LOH, Tumor mutational burden (TMB) and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

This test also reports tumor mutational burden (TMB). The TMB value serves as a biomarker in consideration of the potential applicability of therapies targeting immune checkpoint inhibition. TMB values of greater than or equal to 10 are described as TMB high, values less than or equal to 5 are described as TMB low, and values between those ranges are defined as TMB intermediate. Tumors with a high TMB can generate neoantigens, representing abnormal proteins, that can trigger an immune response.  For this reason, TMB-high tumors may be more likely to respond to immunotherapy. TMB is used to inform the cancer patient population who would be more likely to benefit from immune checkpoint inhibitors.

In the setting of high-TMB (defined in this context as 10 mutations/Mb) the FDA has approved pembrolizumab for adult and pediatric patients with advanced-stage solid tumors following disease progression on standard-of-care therapy who lack an alternative treatment option.  Dozens of other immunotherapies have been approved in various cancer contexts. Ability to report TMB may be tumor specimen dependent. Please contact the laboratory for further information.